Canonical Allele Identifier: CA351759255

Gene: FANCD2 FANCD2OS

Linked Data

• dbSNP Id: rs1246347817
• MyVariant Identifiers: chr3:g.10140612G>C (hg19) ; chr3:g.10098928G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10098928G>C , CM000665.2:g.10098928G>C	GRCh38
NC_000003.11:g.10140612G>C , CM000665.1:g.10140612G>C	GRCh37
NC_000003.10:g.10115612G>C	NCBI36
NG_007311.1:g.77500G>C , LRG_306:g.77500G>C
NG_042053.1:g.14304C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681997.1:n.3478G>C (FANCD2)
ENST00000683263.1:n.3393G>C (FANCD2)
ENST00000683312.1:n.3945G>C (FANCD2)
ENST00000675286.1:c.4281+113G>C (FANCD2) MANE Select	ENSP00000502379.1:n.4281+113G>C
ENST00000676013.1:c.4170+113G>C (FANCD2)	ENSP00000501999.1:n.4170+113G>C
ENST00000287647.7:c.4394G>C (FANCD2)	ENSP00000287647.3:p.Cys1465Ser
ENST00000383807.5:c.4281+113G>C (FANCD2)	ENSP00000373318.1:n.4281+113G>C
ENST00000419585.5:c.4281+113G>C (FANCD2)	ENSP00000398754.1:n.4281+113G>C
ENST00000421731.5:c.2686+113G>C (FANCD2)
ENST00000431315.5:n.71-4038C>G (FANCD2OS)
ENST00000470028.1:n.354+113G>C (FANCD2)
ENST00000524279.1:c.*43+5270C>G (FANCD2OS)	ENSP00000429663.1:n.*43+5270C>G
NM_001018115.1:c.4281+113G>C , LRG_306t1:c.4281+113G>C (FANCD2)	NP_001018125.1:n.4281+113G>C
NM_033084.3:c.4394G>C , LRG_306t2:c.4394G>C (FANCD2)	NP_149075.2:p.Cys1465Ser
NM_173472.1:c.*43+5270C>G (FANCD2OS)	NP_775743.1:n.*43+5270C>G
XM_005264946.2:c.4281+113G>C (FANCD2)	XP_005265003.1:n.4281+113G>C
XM_005264947.2:c.2399G>C (FANCD2)	XP_005265004.1:p.Cys800Ser
XM_006713021.2:c.4394G>C (FANCD2)	XP_006713084.1:p.Cys1465Ser
XM_006713023.2:c.4355G>C (FANCD2)	XP_006713086.1:p.Cys1452Ser
XM_006713024.2:c.4277G>C (FANCD2)	XP_006713087.1:p.Cys1426Ser
XM_011533480.1:c.3245G>C (FANCD2)	XP_011531782.1:p.Cys1082Ser
NM_001018115.2:c.4281+113G>C (FANCD2)	NP_001018125.1:n.4281+113G>C
NM_001319984.1:c.4281+113G>C (FANCD2)	NP_001306913.1:n.4281+113G>C
NM_033084.4:c.4394G>C (FANCD2)	NP_149075.2:p.Cys1465Ser
NM_001018115.3:c.4281+113G>C (FANCD2) MANE Select	NP_001018125.1:n.4281+113G>C
NM_001319984.2:c.4281+113G>C (FANCD2)	NP_001306913.1:n.4281+113G>C
NM_001374253.1:c.4170+113G>C (FANCD2)	NP_001361182.1:n.4170+113G>C
NM_001374254.1:c.4355G>C (FANCD2)	NP_001361183.1:p.Cys1452Ser
NM_033084.6:c.4394G>C (FANCD2)	NP_149075.2:p.Cys1465Ser
NM_173472.2:c.*43+5270C>G (FANCD2OS)	NP_775743.1:n.*43+5270C>G